Charcot-marie-tooth disease, demyelinating, type 4b3

Preferred Label : Charcot-marie-tooth disease, demyelinating, type 4b3;

Symbol : CMT4B3;

CISMeF acronym : CMT4B3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the set-binding factor 1 gene (SBF1, 603560.0001);

Prefixed ID : #615284;

Details

Origin ID

615284;

UMLS CUI

C3695063;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease type 4B3 [ORDO Disease]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 4B3 [DO Concept]
- Charcot-Marie-Tooth disease type 4B3 (disorder) [SNOMED CT concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 4B3 [DO Concept]
Genes related to phenotype
- Set-binding factor 1 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brain atrophy [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Distal sensory impairment [HPO term]
- Gait disturbance [HPO term]
- Intellectual disability [HPO term]
- Limb muscle weakness [HPO term]
- Microcephaly [HPO term]
- Onion bulb formation [HPO term]
- Ophthalmoplegia [HPO term]
- Pes planus [HPO term]
- Progressive [HPO term]
- Scoliosis [HPO term]
- Strabismus [HPO term]
- Syndactyly [HPO term]
- Urinary incontinence [HPO term]
ORDO concept(s)
- Charcot-Marie-Tooth disease type 4B3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth Disease Type 4B3 [NCIt concept]
- Charcot-Marie-Tooth disease type 4B3 [DO Concept]
- Charcot-Marie-Tooth disease type 4B3 (disorder) [SNOMED CT concept]

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